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Article

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.

Nature genetics - 1 Jul 1999

Sullivan L S, Heckenlively J R, Bowne S J, Zuo J, Hide W A, Gal A, Denton M, Inglehearn C F, Blanton S H, Daiger S P

Abstract excerpt

Inherited retinal diseases are a common cause of visual impairment in children and young adults, often resulting in severe loss of vision in later life. The most frequent form of inherited retinopathy is retinitis pigmentosa (RP), with an approximate incidence of 1 in 3,500 individuals worldwide. RP is characterized by night blindness and progressive degeneration of the midperipheral retina, accompanied by bone...

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PMID: 10391212
DOI: 10.1038/10314
PMCID: PMC2582380

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DCX
ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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